Premium
Tetrasomy 12p (Pallister‐Killian syndrome): Ultrasound indicators and confirmation by interphase fish
Author(s) -
Wilson R. D.,
Harrison K.,
Clarke L. A.,
Yong S. L.
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970140904
Subject(s) - isochromosome , tetrasomy , polyhydramnios , aneuploidy , prenatal diagnosis , diaphragmatic hernia , fluorescence in situ hybridization , medicine , fetus , pathology , obstetrics , biology , chromosome , genetics , pregnancy , karyotype , hernia , surgery , gene
Tetrasomy 12p (Pallister‐Killian syndrome) is a mosaic aneuploidy syndrome in which the isochromosome is present in amniocytes with a much greater percentage than fetal lymphocytes. Two new cases identified by prenatal diagnosis are reported. Indications for prenatal diagnosis were advanced maternal age and fetal anomalies. The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia. Recognition of congenital malformation patterns prenatally may allow appropriate selection of tissue for chromosome analysis. Molecular cytogenetic analysis using fluorescence in situ hybridization was used retrospectively to confirm the presence of the isochromosome 12p in various formalin‐fixed fetal tissues. The levels of mosaicism detected in fetal and placental tissues were lower than those detected prenatally.